| Variant ID | 29488 |
|---|---|
| Entrez Gene ID | 54884 |
| Gene | RETSAT (GeneCards) |
| Location | hg19 2:85571833-85571833
hg38 2:85344710-85344710 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.85571833 C>T (Genome Assembly: hg19) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1351 |
| CADD Raw score (version 1.3) | 1.76439 (Deleterious) |
| FATHMM raw prediction score | 0.97566 (Tolerated) |
| Deleterious probability by DeFine | 0.9539 (Deleterious) |
| Entrez Gene ID | 54884 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RETSAT (GeneCards) |
| Number of variants in RETSAT in this database | 1 (view all the variants) |
| Full name | retinol saturase |
| Band | 2p11.2 |
| Other IDs | Vega: OTTHUMG00000154611 OMIM: 617597 HGNC: HGNC:25991 Ensembl: ENSG00000042445 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.164 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |